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2128 citation(s) found for "Wu, Christine J".

From congenital variants to critical clues: A radiologic review of inferior vena cava pathologies
Khot, Rachita , Jarmakani, Haddy, Krasinski, Aaron, Menias, Christine O. , Katz, Douglas S., Revzin, Margarita V , Revzin, Margarita V.

Journal of Clinical Imaging Science | December 31, 2025 | Volume: 15 | Issue: No issue available | Pages: 50

10.25259/jcis_249_2025 | PMID 41625552 Get It

Inferior vena cava (IVC) pathology is often underrecognized on non-dedicated imaging examinations, yet it carries significant diagnostic and clinical implications, particularly in acute emergency settings. This review highlights the complementary roles of ultrasound (US) and computed tomography (CT) in the assessment of IVC abnormalities. The US provides real-time, bedside evaluation of IVC patency, caliber, and hemodynamics, whereas CT offers detailed anatomic and structural characterization critical for diagnosis and management. The review aims to systematically discuss congenital variants, thrombotic, traumatic, systemic conditions, and neoplastic involvement of the IVC, emphasizing their imaging features and clinical relevance.
Extramedullary Disease—Achilles Heel in Myeloma?
Kumar, Shaji, Richter, Joshua , Cohen, Yaël C. , Ye, J. Christine , Mateos, María‐Victoria, Hungria, Vania, Zamagni, Elena, Hungria, Vânia , Zamagni, Elena , Kumar, Shaji K , Cohen, Yael C , Hungria, Vania , Richter, Joshua , Zamagni, Elena , Kumar, Shaji , Usmani, Saad Z. , Mateos, María‐Victoria

American Journal of Hematology | December 30, 2025 | Volume: 101 | Issue: 3 | Pages: 521-536

10.1002/ajh.70138 | PMID 41462032 Get It

ABSTRACT Despite advances in therapy, extramedullary disease (EMD) remains an aggressive form of multiple myeloma associated with poor outcomes. Patients with true EMD, in which plasmacytomas have become completely independent of bone, have a particularly poor prognosis. The pathogenesis of EMD is driven by complex mechanisms involving loss of adhesion molecules, heterogeneous genetic and epigenetic changes, and a solid tumor‐like architecture within the microenvironment. Although the introduction of advanced imaging techniques and immunotherapy has led to improved detection and more promising outcomes and regimens, respectively, more prospective studies dedicated to true EMD are needed.
Leveraging generative artificial intelligence to optimise a core international business process
Kamath, Janine R., Witte, Nathaniel, Colon, Josie Dappah, Mitchell, Christine

Management in Healthcare: A Peer-Reviewed Journal | December 29, 2025 | Volume: 10 | Issue: 2 | Pages: 126

10.69554/rdfr4298 Get It

The application of artificial intelligence (AI), large language models and generative AI (GenAI) is accelerating rapidly across many industries worldwide. Innovative models and tools are being piloted to understand their business and societal value. Models such as ChatGPT (OpenAI), Gemini (Google) and Copilot (Microsoft) have become increasingly sophisticated and widely adopted. Understanding the advantages and drawbacks of GenAI models is crucial for organisations seeking to leverage GenAI to maximise their efficiency and expand their capabilities. This paper describes the strategic approach, implementation and findings of using GenAI in a health care business context. A GenAI model was used to analyse and summarise strategic and operational information submitted by external organisations seeking to collaborate with Mayo Clinic. The goal was to reduce process cycle time and manual resource intensity. In parallel, a comparative human review was conducted by functional experts. Both the AI-generated and human-reviewed results were evaluated using sentiment analysis (SA) and then categorised as positive, neutral or negative. Attention was paid to possible inaccuracies and biases associated with the use of the GenAI model. GenAI reduced the manual workload by approximately 20−25 per cent and presented information in a well-structured format. However, the SA showed the GenAI results as positively biased and the human-generated results as neutral. These results were most likely influenced by a positive bias in the input documents, the lack of contextual comparators/ standards in the GenAI model and an inherent bias within the model’s algorithm(s). Additionally, limitations in input size and language translation hindered the GenAI model’s effectiveness. The possibility of AI hallucinations/inaccuracies emphasised the importance of validation by a human expert. Furthermore, carefully formatting the input data enhanced the value and relevance of the GenAI model’s outputs. GenAI has the potential to increase efficiency and alleviate manual burden, but it must be thoughtfully implemented to address inaccuracies, biases and privacy concerns. This article is also included in The Business & Management Collection which can be accessed at https:// hstalks.com/business/.
Reaffirming the importance of nomenclature stability for Candida auris and its associated disease of candidiasis
Zhang, Sean X. , Hoog, Sybren G. de, Denning, David W. , Ahmed, Sarah , Alastruey-Izquierdo, Ana, Arendrup, Maiken Cavling, Borman, Andrew M. , Chen, Sharon, Chowdhary, Anuradha , Colgrove, Robert C. , Cornely, O., Filkins, Laura , Gangneux, Jean-Pierre, Gené, Josepa, Groll, A. H., Guillot, Jaques, HAASE, G., Jagielski, Tomasz , Kandemir, Hazal, Kidd, Sarah , Kwon-Chung, June, Mendoza, Leonel, Nguyen, M. Hong, Song, Yinggai , Stielow, J. Benjamin, Vilela, Raquel, Vitale, Roxana G. , Wengenack, Nancy L. , White, P. Lewis, Ostroski-Zeichner, Luis, Walsh, Thomas J., Alastruey‐Izquierdo, Ana , Arendrup, Maiken Cavling , Kandemir, Hazal , de Hoog, Sybren , Alastruey-Izquierdo, A , Arendrup, Maiken Cavling , Borman, Andrew , Filkins, Laura , Gené, Josepa , Groll, Andreas H , Halliday, Catriona , Hoenigl, Martin , Jagielski, Tomasz , Kandemir, Hazal , Kidd, Sarah E , Kus, Julianne V , Kwon-Chung, Kyung J , Lockhart, Shawn R. , Meis, Jacques F , Mendoza, Leonel , Nguyen, M Hong , Song, Yinggai , Vitale, Roxana G , Wengenack, Nancy L , White, Lewis , Walsh, Thomas J , Zhang, Sean X , Ahmed, Sarah A , Cornely, Oliver A. , Dufresne, Philippe J. , Gangneux, Jean‐Pierre , Groll, Andreas H. , Haase, Gerhard , Hawksworth, David L. , Hay, Roderick J. , Hoenigl, Martin , Hubka, Vít , Kus, Julianne V. , Kwon‐Chung, June , Meyer, Wieland , Sorrell, Tania Christine , Stielow, J. Benjamin , Vilela, Raquel, Ostrosky‐Zeichner, Luis

Journal of Clinical Microbiology | December 23, 2025 | Volume: 64 | Issue: 2 | Pages: No page available

10.1128/jcm.01550-25 | PMID 41432443 Get It

Association of Radiologic Findings of Otosclerosis Using Photon-Counting Computed Tomography With Hearing
Babajanian, Eric E. , Swartz, Hayden J., Leng, Shuai, Lohse, Christine M. , Lane, Jack I., Carlson, Matthew L., Benson, John C. , Farnsworth, Paul J. , Swartz, Hayden J., Leng, Shuai , Carlson, Matthew L.

Otology & Neurotology | December 23, 2025 | Volume: 47 | Issue: 3 | Pages: 418-422

10.1097/mao.0000000000004798 | PMID 41432388 Get It

Objective: To examine the association of extent of otosclerotic plaque using high-resolution photon-counting computed tomography (PCCT) with hearing and surgical outcomes. Study design: Historical cohort. Setting: Large academic center. Patients: Patients with otosclerosis who completed PCCT imaging at time of initial evaluation. Interventions: Observation, surgery. Main outcome measures: Audiometric data. Results: A total of 53 ears were eligible for study. The mean age at PCCT was 51 years (SD: 14). The mean extent of oval window otosclerotic plaque measured in radial degrees was 112 (SD: 65) and the mean otosclerotic depth was 1.6mm (SD: 0.6). The mean air-bone gap pure-tone average was 18 dB (SD: 12) and the mean Carhart degree was 9 dB (SD: 10). The radial degrees of oval window extent were not significantly associated with air-bone gap (correlation coefficient: 0.14; P =0.3) or Carhart degree (correlation coefficient: 0.04; P =0.8). Likewise, otosclerotic plaque depth was not significantly associated with air-bone gap (correlation coefficient: −0.19; P =0.2) or Carhart degree (correlation coefficient: −0.08; P =0.6). After PCCT, 22 ears underwent surgery. In this subset, oval window extent and plaque depth were not significantly associated with the postoperative changes in air-bone gap or high-frequency thresholds. Conclusions: Despite enhanced visualization of subtle abnormalities with PCCT imaging, the extent of oval window otosclerotic plaque, measured in angular degrees and depth, was not associated with hearing loss at time of initial evaluation or postoperative audiologic changes in patients with otosclerosis.
Vestibular and Audiometric Outcomes in Cochlear Implantation With Simultaneous Endolymphatic Sac Decompression for Patients With Ménière Disease
Khandalavala, Karl R. , Babajanian, Eric E. , Marinelli, John P. , Lohse, Christine M. , Driscoll, C W, Carlson, Matthew L., Neff, Brian A., Dornhoffer, James R. , Olson, Brennan G, Driscoll, Colin L., Olson, Brennan , Driscoll, Colin L. W., Carlson, Matthew L.

Otology & Neurotology | December 23, 2025 | Volume: 47 | Issue: 3 | Pages: 475-478

10.1097/mao.0000000000004788 | PMID 41432410 Get It

Objective: To evaluate the impact of cochlear implantation (CI) and simultaneous endolymphatic sac decompression (ELSD) on vestibular and audiometric outcomes in patients with advanced Ménière disease (MD). Study design: Historical cohort. Setting: Tertiary academic medical center. Patients: Patients with medically refractory MD who underwent CI with or without simultaneous ELSD from 2000 through 2024. Interventions: CI with or without ELSD. Main outcome measures: Post-CI patient-reported changes in vertigo severity and frequency, Consonant-Nucleus-Consonant word (CNCw) scores, and AzBio sentences in quiet scores. Results: Ninety-nine patients with preoperative vertigo secondary to MD were eligible for study, including 17 (17%) who underwent simultaneous ELSD. In total, 15 (88%) and 2 (12%) of the 17 patients with simultaneous ELSD reported improvement and stability in vertigo severity, respectively; in comparison, 26 (32%), 40 (49%), and 16 (20%) of the 82 patients with CI alone reported improvement, stability, and worsening in vertigo severity, respectively ( P <0.001). Likewise, 15 (88%) and 2 (12%) of the patients with simultaneous ELSD reported improvement and stability in vertigo frequency, respectively, whereas 21 (26%), 43 (52%), and 18 (22%) of patients with CI alone reported improvement, stability, and worsening in vertigo frequency, respectively ( P <0.001). Post-CI speech recognition scores were not significantly different between the simultaneous ELSD and CI alone groups [median (IQR) CNCw 70 (38 to 82) vs. 72 (58 to 82) and median (IQR) AzBio quiet 87 (67 to 96) vs. 87 (73 to 94), respectively]. Conclusions: In patients with MD, CI with simultaneous ELSD provides improvement in vertigo symptoms and similar audiometric outcomes when compared with CI alone. In appropriately selected patients with both refractory vestibular symptoms and sensorineural hearing loss meeting criteria for implantation, CI with simultaneous ELSD offers improvement in severity and frequency of vertigo as well as successful auditory rehabilitation.
Proposed Development of a New Staging System for Hearing Loss: Countermeasure 2 of the Hearing Health Collaborative
Carlson, Matthew L., Zwolan, Teresa A. , Cosetti, Maura K. , Gubbels, Samuel P., Hashmi, Ardeshir Z. , Holcomb, Meredith A. , Jilla, Anna Maria, Kelley, Barbara, Lohse, Christine M. , Marinelli, John P. , McKee, Michael , Moody-Antonio, Stephanie A., Miller, Erin L. , Nassiri, Ashley M. , Reed, Nicholas S. , Spankovich, Christopher , Tieben, John, Zeitler, Daniel M. , Sydlowski, Sarah A., Tieben, John E, Carlson, Matthew L. , Bush, Matthew L. , Dunn, Camille C. , Gurgel, Richard Klaus , Hunter, Jacob B. , Jilla, Anna Marie , Moody‐Antonio, Stephanie , Miller, Erin L., Sladen, Douglas P. , Yueh, Bevan , Sydlowski, Sarah

Otology & Neurotology | December 22, 2025 | Volume: 47 | Issue: 2 | Pages: e158-e163

10.1097/mao.0000000000004700 | PMID 41428499 Get It

Hearing loss is a highly prevalent disease state affecting almost 1 in 5 individuals globally. Growing research shows that untreated or undertreated hearing loss carries significant long-term sequelae, including increased risk of social isolation, depression, and cognitive decline, among other ramifications. Limited awareness and common misperceptions among the general US adult population and primary care providers contribute to low rates of referral to hearing specialty clinics and underutilization of hearing aids, cochlear implants, and other rehabilitative devices. Comprised of diverse membership, the Hearing Health Collaborative (HHC) was formed in May 2021 to identify and overcome challenges impacting good health care practices and public policy on hearing care in connection with healthy aging. This editorial documents a recent outcome of the HHC derived from a structured A3 process. Specifically, initiative 2, a proposal to develop a simple, clinically anchored staging system primarily for use by frontline providers and patients, is presented. Unlike other common disorders that harbor long-term health sequelae, a corresponding pragmatic clinical staging system—leveraging precedent disease staging convention, based on clinically meaningful outcomes and prognosis for acquired hearing loss—does not exist. The development of this staging system will potentially allow for improved communication across providers and patients, facilitate referral pathways, and ultimately enable patient access to timely and appropriate care.
Enhancing Clinical Cancer Research Through Sharing of Data and Biospecimens
Wildiers, Hans, O’Reilly, Séamus , Cauwenberge, Josephine Van , Arahmani, Amal, Arteaga, Carlos L. , Bédard, Philippe L. , Bliss, Judith M. , Boussis, Panayota, Caballero, Carmela, Cameron, David , Carrasco, Eva , Casas, Ana, Chua, Boon , DeMichele, Angela, Esserman, Laura, Hodgdon, Christine, Ignatiadis, Michail, Kok, Marleen , Lacombe, Denis, Linderholm, Barbro, Loi, Sherene, MacKenzie, Mairead, Maués, Julia , Meheus, Lydie , Neven, Patrick, Parsons, Heather A. , Piccart, Martine , Pusztai, Lajos, Razis, E. , Schumacher-Wulf, Eva, Spanic, Tania, Tutt, Andrew , Veer, Laura van ‘t , Werutsky, Gustavo, Yee, Douglas , Zaman, Khalil , Desmedt, Christine , Bliss, Judith , Yee, Douglas , Adam, Virginie Sarah , Brain, Etienne G.C. , Buyse, Marc , Cameron, David, Cardoso, Fátima , Curigliano, Giuseppe , Floris, Giuseppe , Goetz, Matthew P. , Goulioti, Theodora , Haibe‐Kains, Benjamin , Hodgdon, Christine, Linderholm, Barbro Kristina , Lord, Christopher J. , MacKenzie, Mairead, Needham, Judy , Neven, Patrick , Pusztai, Lajos , Saji, Shigehira , Sonke, Gabe S. , Spanic, Tania, Tannock, Ian F. , Urruticoechea, Ander , Veer, Laura J. van’t , Vaz-Luís, Inês , Werutsky, Gustavo

JAMA Oncology | December 18, 2025 | Volume: 12 | Issue: 2 | Pages: 200

10.1001/jamaoncol.2025.5376 | PMID 41410930 Get It

Importance Molecular analyses of biospecimens collected from study participants are essential for identifying biomarkers that can tailor treatments to specific subsets of patients who are most likely to benefit. Sharing of data and biospecimens from clinical trials enables personalized, patient-centric use of cancer therapies and accelerates the development of new treatments. Objective To describe obstacles to sharing data and biospecimens and to propose strategies to enhance access and collaboration. Evidence Review This is a Special Communication authored by 53 academic investigators and patient representatives from the breast cancer community with extensive experience in conducting clinical and translational research. The article also evaluates the impact of biomarker research on specifying responsive subpopulations in the 29 registrational clinical trials that have led to approval of a new drug for treatment of breast cancer between 2017 and 2024. Findings Clinical trial participants are increasingly asked to provide tissue and/or body fluid biospecimens for biomarker research that is typically controlled by the sponsoring pharmaceutical company, but published biomarker studies are rare. Among 29 breast cancer registrational studies reported in the past 8 years, none resulted in biomarker research that restricted a drug’s approved indication. Herein, strategies to maximize the value of clinical data and biospecimens contributed by participants are proposed, thereby supporting the shared goals of the pharmaceutical industry and academia to improve patient care. These strategies include (1) establishing coleadership structures involving academia and patients in clinical trial design and conduct, (2) ensuring that informed consent forms state that data and biospecimens will be shared with academia for future research, (3) requiring the sharing of clinical data as a condition for regulatory approval, and (4) enabling access to biospecimens and translational research data for independent studies on biomarkers that may indicate drug efficacy and toxicity. Conclusions and Relevance Data and biospecimen sharing from registrational trials has been suboptimal. Improving clinical data, biospecimens, and biospecimens’ related data sharing requires concrete actions and a multidimensional stakeholder approach to accelerate the impact of clinical cancer research on the quality of patient care.
Molecular and clinical stratification of astroblastomas: Three distinct fusion-defined groups informing risk-adapted treatment strategies
Federico, Aniello , Schmitt-Hoffner, Felix , Fonseca, Adriana , Geisemeyer, Neal, Bruckner, Katharina , Mauermann, Monika, Sill, Martin , Stichel, Damian , Sturm, Dominik , Schüller, Ulrich , Tauziede-Espariat, Arnault, Capper, David, Abdullaev, Zied , Selt, Florian , Williamson, Lane, Miele, Evelina, Snuderl, Matija, Brandner, Sebastian, Lugt, Jasper van der , Bunt, Jens , Kolenova, Alexandra, Wilson, Yelena , Weintraub, Lauren , Spiegl-Kreinecker, Sabine, Aistleitner, Barbara, Zapotocky, Michal, Ramaswamy, Vijay, Korshunov, Andrey, Jones, Barbara C. , Kjaersgaard, Mimi, Kranendonk, Mariëtte E.G. , Haberler, Christine, Packer, R., Jäger, Natalie, Sahm, Prof Felix, Koster, J., Aldape, Kenneth, Hoff, Katja von , Gojo, Johannes , Kool, M., Varlet, Pascale , Capper, David , Selt, Florian , Antonelli, Manila , Brandner, Sebastian , Bunt, Jens , Raghunathan, Aditya , Ramaswamy, Vijay , Haberler, Christine , von Deimling, Andreas , Sahm, Felix , Aldape, Kenneth , Gojo, Johannes , Kool, Marcel , Von Hoff, Katja , Geisemeyer, Neal, Tauziède-Espariat, Arnault , Capper, David , Schrimpf, Daniel , Donson, Andrew M. , Miele, Evelina , Snuderl, Matija , Łastowska, Maria , Kramm, Christof Maria , Kolenová, Alexandra , Raghunathan, Aditya , Hansford, Jordan R. , Spiegl‐Kreinecker, Sabine , Baroni, Lorena , Zápotocký, Michal , Ramaswamy, Vijay , Korshunov, Andrey , Kjærsgaard, Mimi , Haberler, Christine , Deimling, Andreas von , Sahm, Felix , Pfister, Stefan M. , Kool, Marcel

Neuro-Oncology | December 18, 2025 | Volume: 28 | Issue: 4 | Pages: 1005-1019

10.1093/neuonc/noaf283 | PMID 41429568 Get It

Abstract Background Astroblastomas are rare brain tumors predominantly affecting children and young adults, for which molecular subtypes and clinical management remain undefined. Methods We analyzed tumor samples, molecular profiles, and clinical data from 200 patients, classified as “Astroblastoma, MN1-altered” under WHO criteria, using DNA methylation profiling, DNA/RNA profiling/sequencing, and survival analyses. Results DNA methylation analyses identified 3 groups: Group A (n = 143, characterized by MN1::BEND2 fusions, predominantly supratentorial location, with striking female predominance and favorable survival); Group B (n = 37, epigenetically and transcriptionally closely related to Group A, but characterized by EWSR1::BEND2 fusions, with spinal and infratentorial locations and poor prognosis); and Group C (n = 20, epigenetically and transcriptionally distinct, characterized by MN1::CXXC5 fusions, exclusively supratentorially located, with favorable survival). Progression-free and overall survival were significantly shorter in Group B (5-year PFS 14%; 10-year OS 54%) compared to A (5-year PFS 47%; 10-year OS 89%) and C (5-year PFS 75%; 10-year OS 89%). Radiotherapy improved PFS in Group B (hazard ratio 0.25), while no clear benefit was identified for Groups A and C. Conclusions Astroblastoma, MN1-altered, comprises 3 molecularly and clinically distinct groups, characterized by different fusion genes, including those without MN1. These new insights, including the identification of potential predictive biomarkers like 14q/16q loss, provide a framework for the development of risk-stratified therapeutic approaches. Importantly, we identified a molecularly defined high-risk group that benefits from radiation therapy. Our findings redefine Astroblastoma as a molecularly diverse tumor type, propose a refined classification, support the development of risk-adapted therapeutic strategies and provide a rational standard of care.
Cortical asymmetry in autosomal dominant Alzheimer’s disease progression
Pérez-Millan, Agnès , Falgàs, Neus , Borrego-Écija, Sergi, Antonell, Anna, Fernández-Villullas, Guadalupe, Esteller-Gauxax, Diana, Tort-Merino, Adrià, Bargalló, Núria, Balasa, Mircea, Lladó, Albert, Chrem, Patricio, Day, Gregory S. , Devenney, Emma , Huey, Edward D. , Ikeuchi, Takeshi, Jucker, Mathias, Roh, Jee Hoon , Vitali, Paolo , Ortíz, Ana Luisa Sosa, Llibre-Guerra, Jorge J, Gordon, Brian A., Sánchez-Valle, Raquel, (DIAN), The Dominantly Inherited Alzheimer Network, Daniels, Alisha , Courtney, Laura, Ziegemeier, Angela, Skrbec, Karina, Hellm, Cortaiga, Martin, Mariana , Ziegemeier, Ellen , Bartzel, Jamie, Xiong, Chengie , Xu, Xiong, Lu, Ruijin, Li, Yan , Nie, Yuzheng , Gremminger, Emily, Perrin, Richard J. , Franklin, Erin , Ibanez, Laura, Jerome, Gina, Stauber, Jennifer, Baker, Bryce, Minton, Matthew, Cruchaga, Carlos C, Goate, Alison M, Renton, Alan E, Picarello, Danielle M. , Benzinger, Tammie L S, Hornbeck, Russ C. , Chen, Allison, Chen, Charles D., Flores, Shaney, Joseph-Mathurin, Nelly, Jackson, Kelley, Keefe, Sarah , Koudelis, Deborah, Massoumzadeh, Parinaz , Nicklaus, Joyce , Pulizos, Christine, Wang, Qing, Sabaredzovic, Edita, Scott, Jalen , Simmons, Ashlee, Rizzo, Jacqueline, Vlassenko, Andrei G. , Wang, Yong, Hassenstab, Jason, Smith, Jennifer, Stout, Sarah, Marsh, Jacob, Morris, John C, Barthélemy, Nicolas R. , Xu, Jinbin , Ikonomović, Snežana, Graff-Radford, Neill R, Farlow, Martin R. , Chhatwal, Jasmeer P. , Maa, Courtney, Ishiguro, Takanobu , Ishii, Kenji, Senda, Michio, Salloway, Stephen , Bechara, Jacob A, Martins, Ralph, Fox, Nick C, Ryan, Natalie S. , Laske, Christoph , Timofejavaite, Reda, Kuder-Buletta, Elke, Graber-Sultan, Susanne, Obermueller, Ulrike, Xiong, Chengjie , Rödenbeck, Yvonne, Vӧglein, Jonathan, Méndez, Patricio Chrem, Vazquez, Silvia, Leon, Yudy Milena, Ramirez, Laura, Baena, Ana , Bocanegra, Yamile , Levey, Allan, Johnson, Erik C B, Seyfried, Nicholas T. , Ringman, John M. , Fagan, Anne M. , Mori, Hiroshi, Lopera, Francisco , Goate, Alison , Hassenstab, Jason , Borrego‐Écija, Sergi , Pérez‐Millan, Agnès , Ikeuchi, T , Vöglein, Jonathan , Roh, Jee Hoon , Vitali, Paolo , Gordon, Brian A , Bateman, Randall J , Sánchez-Valle, Raquel , Day, Gregory S , Xiong, Chengjie , Hassenstab, Jason , Borrego-Écija, Sergi , Goate, Alison M , Bosch, Beatríz , Antonell, Anna, Fernández‐Villullas, Guadalupe , Esteller, Diana , Tort‐Merino, Adrià , Balasa, Mircea , Lladó, Albert , Aguillon, David , Ikeuchi, Takeshi , Jucker, Mathias , Kasuga, Kensaku , Vöglein, Jonathan , Llibre‐Guerra, Jorge J. , Gordon, Brian A. , McDade, Eric , Bateman, Randall J. , Sánchez‐Valle, Raquel , Supnet, Charlene , Lu, Ruijin, Wang, Guoqiao , Ibanez, Laura , Cruchaga, Carlos , Fulton‐Howard, Brian , Banks, Jessica N , Flores, Shaney , Goyal, Manu S. , Hobbs, Diana A. , Joseph‐Mathurin, Nelly , McCullough, Austin , McKay, Nicole S. , Wang, Yong , Smith, Jennifer, Stout, Sarah H., Aschenbrenner, Andrew J. , Karch, Celeste M. , Marsh, Jacob A. , Holtzman, David M. , Berman, Sarah , Graff‐Radford, Neill R. , Senda, Michio , Niimi, Yoshiki , Schofield, Peter R. , Brooks, William S. , Bechara, Jacob , Cash, David M. , Laske, Christoph , Fougère, Christian la , Reischl, Gerald , Lee, Jae Hong , Allegri, Ricardo , Surace, Ezequiel , Vazquez, Silvia, Ramírez, Laura, Serna, Laura, Johnson, Erik C. B. , Masters, Colin L. , Noble, James M. , Lopera, Francisco Javier

Brain Communications | December 18, 2025 | Volume: 8 | Issue: 1 | Pages: No page available

10.1093/braincomms/fcaf488 | PMID 41523185 Get It

Abstract The cortical asymmetry index evaluates the cortical thickness asymmetry between hemispheres. We investigated cortical asymmetry index in asymptomatic and symptomatic mutation carriers of autosomal dominant Alzheimer’s disease to explore the brain asymmetry within the Alzheimer’s disease continuum. Sixty baseline T1-weighted MRI scans were obtained from the Clinic Barcelona cohort. Baseline and longitudinal MRI data from 564 participants within the dominantly inherited Alzheimer network observational study were used as an independent, confirmatory cohort. Cerebrospinal fluid and plasma neurofilament light chain levels were included when available. Cortical thickness was calculated using Freesurfer and cortical asymmetry index was calculated via an open-source pipeline. Cross-sectional analyses examined cortical asymmetry index differences based on clinical classification and APOE ε4 status, adjusting for age, sex and estimated years from onset, while correlations were assessed with age, estimated years from onset, mini-mental state examination scores, and neurofilament light. Longitudinal cortical asymmetry index evolution was modelled using generalized additive models in the dominantly inherited Alzheimer network observational study cohort, incorporating age, sex, and the interaction between group and estimated years from onset. The cortical asymmetry index successfully distinguished asymptomatic mutation carrier and symptomatic mutation carriers from healthy controls in the Clinic Barcelona cohort and symptomatic mutation carriers from controls in dominantly inherited Alzheimer network observational study. Higher cortical asymmetry index in mutation carriers (asymptomatic mutation carrier and symptomatic mutation carriers combined) and in symptomatic mutation carriers were associated with higher plasma neurofilament light levels, a closer proximity to symptom onset, and lower mini-mental state examination in the Clinic Barcelona cohort. In the dominantly inherited Alzheimer network observational study cohort, mutation carriers exhibited increased cortical asymmetry index compared to controls and correlated with elevated neurofilament light (plasma and Cerebrospinal fluid), lower mini-mental state examination, and a closer proximity to symptom onset. APOE3/3 carriers showed greater asymmetry than other APOE genotypes and significant cortical asymmetry index differences between asymptomatic mutation carrier and symptomatic mutation carriers. Longitudinally, cortical asymmetry index increased over time significantly in symptomatic mutation carriers. These findings underscore brain asymmetry as a potential biomarker for early Alzheimer’s disease progression in autosomal dominant Alzheimer’s disease, with implications for detection and monitoring tracking disease-related neuroanatomical changes.